| 1. |
- Birney, Ewan, et al.
(författare)
-
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project
- 2007
-
Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 447:7146, s. 799-816
-
Tidskriftsartikel (refereegranskat)abstract
- We report the generation and analysis of functional data from multiple, diverse experiments performed on a targeted 1% of the human genome as part of the pilot phase of the ENCODE Project. These data have been further integrated and augmented by a number of evolutionary and computational analyses. Together, our results advance the collective knowledge about human genome function in several major areas. First, our studies provide convincing evidence that the genome is pervasively transcribed, such that the majority of its bases can be found in primary transcripts, including non-protein-coding transcripts, and those that extensively overlap one another. Second, systematic examination of transcriptional regulation has yielded new understanding about transcription start sites, including their relationship to specific regulatory sequences and features of chromatin accessibility and histone modification. Third, a more sophisticated view of chromatin structure has emerged, including its inter-relationship with DNA replication and transcriptional regulation. Finally, integration of these new sources of information, in particular with respect to mammalian evolution based on inter- and intra-species sequence comparisons, has yielded new mechanistic and evolutionary insights concerning the functional landscape of the human genome. Together, these studies are defining a path for pursuit of a more comprehensive characterization of human genome function.
|
|
| 2. |
|
|
| 3. |
- Zeggini, Eleftheria, et al.
(författare)
-
Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes
- 2008
-
Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 40:5, s. 638-645
-
Tidskriftsartikel (refereegranskat)abstract
- Genome-wide association (GWA) studies have identified multiple loci at which common variants modestly but reproducibly influence risk of type 2 diabetes (T2D)(1-11). Established associations to common and rare variants explain only a small proportion of the heritability of T2D. As previously published analyses had limited power to identify variants with modest effects, we carried out meta-analysis of three T2D GWA scans comprising 10,128 individuals of European descent and similar to 2.2 million SNPs (directly genotyped and imputed), followed by replication testing in an independent sample with an effective sample size of up to 53,975. We detected at least six previously unknown loci with robust evidence for association, including the JAZF1 (P=5.0 x 10(-14)), CDC123-CAMK1D (P=1.2 x 10(-10)), TSPAN8-LGR5 (P=1.1 x 10(-9)), THADA (P=1.1 x 10(-9)), ADAMTS9 (P=1.2 x 10(-8)) and NOTCH2 (P=4.1 x 10(-8)) gene regions. Our results illustrate the value of large discovery and follow-up samples for gaining further insights into the inherited basis of T2D.
|
|
| 4. |
- Elbe, A.-M., et al.
(författare)
-
Career and Employment Survey for the Former Students of the European Master’s Programme in Sport and Exercise Psychology
- 2009
-
Ingår i: Congrès International de Psychologie du Sport, Vincennes, 1-3 juillet 2009. - Paris : Institut National du Sport, de l'Expertise et de la Performance (INSEP). ; , s. 121-121
-
Konferensbidrag (övrigt vetenskapligt/konstnärligt)abstract
- The purpose of the European Master’s Programme in Sport and Exercise Psychology (EMPSEP) is to pool expertise of 12 European universities within one Master’s programme (see http://www.fepsac.com/). The 60 ECTS European programme provides students with advanced knowledge and skills. The EMPSEP comprises a joint intensive course, a study module similar in all the participating universities, lectures and seminars, a Master’s thesis, and a mobility period of 4-5 months at an EMPSEP host university. Ten years after the graduation of the first students the EMPSEP consortium conducted an online survey. Seventy of the invited 174 former students participated in the study (mean age 31.5 years, SD= 4.7). The aim of the survey was to discover the participants’ employment status and how their participation in the master’s program was related to this. Results indicate that 86% of the participants have started working since they completed their degree. Forty percent of those participants who have started working in their first job have managed to receive a permanent position, 27% a fixed term or temporary job, 25% a part time job, 6% are self employed and 1 person (2%) was employed by subsidies in his/ her first job after graduation. On a scale from extremely dissatisfied (1) to extremely satisfied (6), the participants rated their satisfaction with the program in relation to their career as 4.72 (SD=1.13) on average. Sixty nine of the participants felt that they had benefited from the international network provided by the students and teachers within the programme, and 94% would recommend the European Master’s program to other students in their field.
|
|
| 5. |
- Darendeliler, F., et al.
(författare)
-
Bone Age Progression during the First Year of Growth Hormone Therapy in Pre-Pubertal Children with Idiopathic Growth Hormone Deficiency, Turner Syndrome or Idiopathic Short Stature, and in Short Children Born Small for Gestational Age: Analysis of Data from KIGS (Pfizer International Growth Database)
- 2005
-
Ingår i: Horm Res. ; 63:1, s. 40-7
-
Tidskriftsartikel (refereegranskat)abstract
- Background/Aims: The beneficial effects of growth hormone (GH) therapy on statural growth in children are well established, but the effects on skeletal maturation are less clear. The progression of bone age (BA) was therefore studied during the first year of GH treatment in pre-pubertal children with idiopathic GH deficiency (GHD), Turner syndrome (TS) or idiopathic short stature (ISS), and in short pre-pubertal children born small for gestational age (SGA). Methods: Cross-sectional data on 2,209 short children with idiopathic GHD, 694 with TS, 569 with ISS and 153 with SGA were analysed. Longitudinal data were also analysed from 308 children with idiopathic GHD, 99 with TS, 57 with ISS and 29 with SGA. All patients included in the study were enrolled in KIGS (Pfizer International Growth Database) and were being treated with recombinant human GH (Genotropin((R))). BA was assessed using the Greulich and Pyle method at baseline and after 1 year of GH therapy. Results: In all groups of patients the mean progression of BA was 1 year during the year of GH therapy, although there was considerable individual variation. Progression of BA was not correlated with chronological age, BA, height SD score (SDS) or body mass index SDS at the onset of GH therapy. There was also no consistent effect of the GH dose on BA progression. Conclusion: Progression of BA appears to be normal in patients receiving GH in these diagnostic groups, at least over the first year of treatment in pre-puberty. Copyright (c) 2005 S. Karger AG, Basel.
|
|
